ESPE Abstracts

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

Background: With improved survival of childhood allogeneic hematopoietic stem cell transplant (HSCT), there is increasing need for surveillance, including assessment of endocrine late effects in this cohort1,2.Aim: To evaluate endocrine late effects after chemotherapy and radiation in survivors of childhood allogeneic HSCT.Methods: Multi-site evaluation via medical recor...

Background: There is no effective adjuvant therapy for patients with advanced ACT. YAP1, a HIPPO pathway effector, interacts with Wtn\beta-catenin pathway and plays a crucial role in the maintenance of postnatal adrenal cortex and regulates cell proliferation and apoptosis in several tissues. We recently showed that overexpression of YAP1 associates with worse prognosis in our cohort of pediatric ACT (pACT).Aim: To analy...

Background: Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI, with minimal published evidence to support this clinical observation.Aims: To describe functional outcomes of a cohort of adults with OI, stratified according to severity and treated ...

Background: With improved treatment and survival of childhood hematological malignancies, the issue of fertility in survivors has become an important domain of holistic care. Haemopoietic stem cell transplant (HSCT) survivors were reported to have reduced fertility as compared to siblings, with 4/170 adult female allogeneic HSCT survivors achieving successful pregnancy.1 Of 532 female survivors, median age of 17.8 years at HSCT, who had TBI conditioning, 13 pregnanc...

Background: The effect of bisphosphonates in patients with severe osteopenia of prematurity is unknown in terms of either fracture prevention or long-term safety. A 6-month-old male infant born at 24+2 weeks gestation was referred for consideration of bisphosphonate therapy in the management of severe osteopenia of prematurity. The neonatal course included chronic lung disease requiring four courses of corticosteroids. Despite optimal calcium, phosphate and vitamin D supplemen...

Background: Continuous glucose monitoring (CGM) measures interstitial glucose and displays trend arrows, showing the direction and rate of change in glucose. Trend arrows allow the child/youth to take action to prevent hyper- and hypoglycaemia. Effective strategies for adjusting insulin for trend arrows are lacking. The JDRF CGM Study Group recommended a 10–20% increase/decrease in the insulin dose. However, the bolus dose is dependent on amount of food to be consumed and...

Background: Beckwith-Wiedemann syndrome (BWS) characterised by a group of clinical abnormalities (macrosomia, macroglossia, neonatal hypoglycaemia, omphalocoele and umbilical hernia) results from dysregulation of imprinted genes due to mosaic paternal uniparental isodisomy (patUPD) of 11p15.5. Its association with tumours of embryonic origin is well documented and screening guidelines largely aim to detect hepatoblastoma and Wilm’s tumours during the first decade of life....

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...